List of variants reported as likely pathogenic for anemia by Illumina Laboratory Services, Illumina

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)	rs747253294	0.00034
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter)	rs761341952	0.00012
NM_001081.4(CUBN):c.348+2T>C	rs146047781	0.00012
NM_001113378.2(FANCI):c.3041G>A (p.Cys1014Tyr)	rs140404896	0.00011
NM_138477.4(CDAN1):c.2140C>T (p.Arg714Trp)	rs80338696	0.00008
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp)	rs775076977	0.00004
NM_000398.7(CYB5R3):c.806C>T (p.Pro269Leu)	rs754251915	0.00001
NM_001113378.2(FANCI):c.2509G>T (p.Glu837Ter)	rs748000458	0.00001
NM_000298.6(PKLR):c.391_393del (p.Ile131del)	rs886045351
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs)	rs778381859
NM_000518.5(HBB):c.126_129del (p.Phe42fs)	rs80356821
NM_001081.4(CUBN):c.5913_5916del (p.Thr1972fs)	rs765301342
NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro)	rs121918331
NM_017875.4(SLC25A38):c.625G>C (p.Asp209His)	rs146864395
NM_018062.4(FANCL):c.932dup (p.Tyr311Ter)	rs529201454
NM_138477.4(CDAN1):c.2173C>T (p.Arg725Trp)	rs138334226

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.